Variant report

Variant	rs587650044
Chromosome Location	chr1:120190267-120190268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120188760..120191651-chr1:120254416..120257641,3	K562	blood:
2	chr1:120188687..120197065-chr1:120197482..120205927,19	MCF-7	breast:
3	chr1:120188673..120191126-chr1:120281749..120284526,2	K562	blood:
4	chr1:120188763..120191080-chr1:120201790..120203315,2	K562	blood:
5	chr1:120187998..120191080-chr1:120201790..120203947,3	K562	blood:
6	chr1:120171560..120174135-chr1:120188419..120190372,2	K562	blood:

Variant related genes	Relation type
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3324852	chr1:120189654-120192402	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120188600-120191600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:120188600-120191600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:120188800-120190400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:120188800-120191400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:120188800-120191600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:120188800-120191600	Active TSS	HSMMtube	muscle
7	chr1:120189000-120190400	Flanking Active TSS	HMEC	breast
8	chr1:120189200-120190400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:120189200-120191600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:120189200-120191800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:120189200-120191800	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:120189400-120190400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:120189400-120191400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:120189400-120191400	Active TSS	NH-A	brain
15	chr1:120189400-120191600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:120189400-120191600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:120189400-120191600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:120189400-120191800	Active TSS	Right Atrium	heart
19	chr1:120189400-120192000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:120189600-120190400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr1:120189600-120190400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:120189600-120191000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:120189600-120191400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:120189600-120191400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:120189600-120191400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:120189600-120191400	Active TSS	Fetal Heart	heart
27	chr1:120189600-120191400	Active TSS	Fetal Lung	lung
28	chr1:120189600-120191400	Active TSS	NHEK	skin
29	chr1:120189600-120191400	Active TSS	Osteobl	bone
30	chr1:120189600-120191600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr1:120189600-120191600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:120189600-120191600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:120189600-120191600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:120189600-120191600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:120189600-120191600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:120189600-120191600	Active TSS	Fetal Intestine Small	intestine
37	chr1:120189600-120191600	Active TSS	Fetal Kidney	kidney
38	chr1:120189600-120191600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:120189600-120191600	Active TSS	Fetal Stomach	stomach
40	chr1:120189600-120191600	Active TSS	Right Ventricle	heart
41	chr1:120189600-120191600	Bivalent/Poised TSS	HepG2	liver
42	chr1:120189600-120192000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:120189600-120192000	Active TSS	NHLF	lung
44	chr1:120189800-120190400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:120189800-120190400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr1:120189800-120190400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr1:120189800-120190400	Flanking Active TSS	Liver	Liver
48	chr1:120189800-120190400	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr1:120189800-120190400	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr1:120189800-120190400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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